rs794727362
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794727362(A;G) |
Make rs794727362(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 51786584 |
Gene | SCN8A |
is a | snp |
is | mentioned by |
dbSNP | rs794727362 |
dbSNP (classic) | rs794727362 |
ClinGen | rs794727362 |
ebi | rs794727362 |
HLI | rs794727362 |
Exac | rs794727362 |
Gnomad | rs794727362 |
Varsome | rs794727362 |
LitVar | rs794727362 |
Map | rs794727362 |
PheGenI | rs794727362 |
Biobank | rs794727362 |
1000 genomes | rs794727362 |
hgdp | rs794727362 |
ensembl | rs794727362 |
geneview | rs794727362 |
scholar | rs794727362 |
rs794727362 | |
pharmgkb | rs794727362 |
gwascentral | rs794727362 |
openSNP | rs794727362 |
23andMe | rs794727362 |
SNPshot | rs794727362 |
SNPdbe | rs794727362 |
MSV3d | rs794727362 |
GWAS Ctlg | rs794727362 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727362(G;G) |
Alt | rs794727362(G;G) |
Reference | Rs794727362(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided Early infantile epileptic encephalopathy 13 |
Variation | info |
Gene | SCN8A |
CLNDBN | not provided Early infantile epileptic encephalopathy 13 |
Reversed | 0 |
HGVS | NC_000012.11:g.52180368A>G |
CLNSRC | |
CLNACC | RCV000176315.1, RCV000285972.1, |